Canonical Allele Identifier: CA127213
Gene: NT5DC1 HGNC NCBI
COL10A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17472
ClinVar RCV Id: RCV000019024
dbSNP Id: rs111033543

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116120232G>C , CM000668.2:g.116120232G>C GRCh38
NC_000006.11:g.116441395G>C , CM000668.1:g.116441395G>C GRCh37
NC_000006.10:g.116548088G>C NCBI36
NG_008032.1:g.10902C>G
NG_021351.1:g.24397G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000319550.9:c.529+2287G>C (NT5DC1) MANE Select ENSP00000326858.3:n.529+2287G>C
ENST00000651968.1:c.1884C>G (COL10A1) MANE Select ENSP00000498802.1:p.Tyr628Ter
ENST00000243222.8:c.1884C>G (COL10A1) ENSP00000243222.4:p.Tyr628Ter
ENST00000319550.8:c.529+2287G>C (NT5DC1) ENSP00000326858.3:n.529+2287G>C
ENST00000327673.4:c.1884C>G (COL10A1) ENSP00000327368.4:p.Tyr628Ter
ENST00000419791.3:c.529+2287G>C (NT5DC1) ENSP00000393578.1:n.529+2287G>C
ENST00000460749.1:c.27+2287G>C (NT5DC1)
NM_000493.3:c.1884C>G (COL10A1) NP_000484.2:p.Tyr628Ter
NM_152729.2:c.529+2287G>C (NT5DC1) NP_689942.2:n.529+2287G>C
XM_006715333.2:c.1884C>G (COL10A1) XP_006715396.1:p.Tyr628Ter
XM_006715377.2:c.529+2287G>C (NT5DC1) XP_006715440.1:n.529+2287G>C
XM_006715378.2:c.529+2287G>C (NT5DC1) XP_006715441.1:n.529+2287G>C
XM_011535432.1:c.1884C>G (COL10A1) XP_011533734.1:p.Tyr628Ter
XM_011535433.1:c.1884C>G (COL10A1) XP_011533735.1:p.Tyr628Ter
XM_006715333.3:c.1884C>G (COL10A1) XP_006715396.1:p.Tyr628Ter
XM_006715378.3:c.529+2287G>C (NT5DC1) XP_006715441.1:n.529+2287G>C
XM_011535432.3:c.1884C>G (COL10A1) XP_011533734.1:p.Tyr628Ter
XM_011535433.3:c.1884C>G (COL10A1) XP_011533735.1:p.Tyr628Ter
XM_017010248.1:c.1884C>G (COL10A1) XP_016865737.1:p.Tyr628Ter
NM_000493.4:c.1884C>G (COL10A1) MANE Select NP_000484.2:p.Tyr628Ter
NM_152729.3:c.529+2287G>C (NT5DC1) MANE Select NP_689942.2:n.529+2287G>C